Canonical Allele Identifier: CA386304935

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1359278405
• MyVariant Identifiers: chr12:g.102179867C>G (hg19) ; chr12:g.101786089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786089C>G , CM000674.2:g.101786089C>G	GRCh38
NC_000012.11:g.102179867C>G , CM000674.1:g.102179867C>G	GRCh37
NC_000012.10:g.100703998C>G	NCBI36
NG_021243.1:g.49779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.494G>C MANE Select	ENSP00000299314.7:p.Ser165Thr
ENST00000299314.11:c.494G>C	ENSP00000299314.7:p.Ser165Thr
ENST00000549940.5:c.494G>C	ENSP00000449150.1:p.Ser165Thr
ENST00000550352.1:n.288G>C
ENST00000552681.1:c.128G>C	ENSP00000449217.1:p.Ser43Thr
NM_024312.4:c.494G>C	NP_077288.2:p.Ser165Thr
XM_006719593.2:c.494G>C	XP_006719656.1:p.Ser165Thr
XM_011538731.1:c.413G>C	XP_011537033.1:p.Ser138Thr
XM_006719593.3:c.494G>C	XP_006719656.1:p.Ser165Thr
XM_011538731.2:c.413G>C	XP_011537033.1:p.Ser138Thr
XM_017019961.1:c.278G>C	XP_016875450.1:p.Ser93Thr
XM_017019962.2:c.-857G>C	XP_016875451.1:n.-857G>C
NM_024312.5:c.494G>C MANE Select	NP_077288.2:p.Ser165Thr